OBO ID: DOID:0111840
Term Name: Van Esch-O'Driscoll syndrome Search Ontology:
Synonyms:
  • MRXSVEOD
  • VEODS
  • X-linked intellectual disability, Van Esch type
  • X-linked syndromic mental retardation Van Esch-O'Driscoll type
Definition: A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. https://www.ncbi.nlm.nih.gov/pubmed/31006512
References:
Ontology: Human Disease   ( DOID:0111840 )
OTHER Van Esch-O'Driscoll syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLA1 Van Esch-O'Driscoll syndrome 301030
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None